Gene Therapy Treatments

Advances in our understanding of genetics mean that there are promising new treatments on the horizon for Dravet Syndrome.

What is gene therapy?

It is a technique used to change the genes inside our body's cells to try to prevent, treat or cure a disease or condition. That might be:

• altering a gene
• increasing the function of a normal gene
• inserting a new gene

How could gene therapy help someone with Dravet Syndrome?

Dravet Syndrome is caused by one particular gene change. In around 85-90% of people, it is caused by a change in the SCN1A gene. Gene therapy for Dravet Syndrome is about correcting that particular genetic change.

The medicines that are currently available to treat Dravet Syndrome (including sodium valproate, clobazam and stiripentol, as well as new and emerging treatments such as epidyolex and fenfluramine) are increasingly good at controlling the epileptic seizures associated with Dravet Syndrome. But, even if someone with Dravet Syndrome has controlled seizures, they can experience significant problems with learning, behaviour, movement and other areas of development. 

By correcting or changing the faulty gene that we know is the underlying cause of Dravet Syndrome, gene therapies may be able to dramatically alter or even cure Dravet-related seizures as well as its other characteristics.

How likely is it that there will be successful gene therapies for Dravet Syndrome?

At the moment, it is too early to say if gene therapies will be successful, but data that’s available from initial research is promising. One of the reasons that researchers are so optimistic about gene therapy in Dravet Syndrome is that this approach already has a successful track record in other neurological conditions caused by one gene change. This includes Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy.

Gene therapy studies in Dravet Syndrome are in the early stages, but researchers believe we are likely to see important advances during the next two to five years. This offers real hope to families, with promising new treatments on the horizon.

Gene therapy research funded by Dravet Syndrome UK

Funding research is part of our mission to bring hope to families living with Dravet Syndrome. We fund research that may help identify new treatments and, one day, bring about a cure for this condition.

Our research into gene therapy includes:

· Finding a way to edit the messages sent to SCN1A genes to reduce symptoms of Dravet Syndrome.

· Finding a new way to treat Dravet Syndrome by using a special editing technique which changes the instructions produced by the SCN1A gene.

Pharmaceutical companies are developing potential gene therapies for Dravet Syndrome. They include:

• A treatment called STK-001. This has been developed to treat SCN1A-related Dravet Syndrome where someone has one healthy copy of a gene and one that has changed.  STK-001 works by helping the functional gene to produce more protein. The aim is to restore protein levels to near normal, and hopefully in doing so, addressing the underlying causes of Dravet Syndrome. This research is from Stoke Therapeutics, a US biotech company. In the US, there’s clinical trials for STK-001 called MONARCH and SWALLOW TAIL. In the UK, the trial is called ADMIRAL. Find out more about this research here.

• A treatment called ETX10, from Encoded Therapeutics, another US-based research company. This is a potential one-time, disease-modifying gene regulation therapy for SCN1A-related Dravet Syndrome. Clinical trials for ETX10 are expected to start soon.

A number of other gene therapy projects are also in development. You can read a detailed review of all these here.

Many thanks to our Medical Advisory Board member, Andreas Brunklaus, for his assistance in co-authoring this content.